Varaico: Literature-Extracted Genetic Variants

NCF2

348 papers

RefSeq Summary

This gene encodes neutrophil cytosolic factor 2, the 67-kilodalton cytosolic subunit of the multi-protein NADPH oxidase complex found in neutrophils. This oxidase produces a burst of superoxide which ...

Pfam Domains

TPR_8aa 37–69UCSCTetratricopeptide repeat

TPR_8aa 71–98UCSCTetratricopeptide repeat

SH3_1aa 246–291UCSCSH3 domain

PB1aa 351–429UCSCPB1 domain

SH3_1aa 463–508UCSCSH3 domain

Gene Aliases

HGNC Name

neutrophil cytosolic factor 2

HGNC Alias Symbols

p67phox; NOXA2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_000433.4

p.K58del1

c.172_174delCTT

Surrounding Variants

1 paper

NM_000433.4

p.K58_A59Splc

c.174+1G>A

2 papers

NM_000433.4

p.K58delFs

c.174delC

1 paper

NM_000433.4

p.K58_A59insFs

c.174_175insT

2 papers

NM_000433.4

p.K58delFs

c.173delT

1 paper

NM_000433.4

p.E57insFs

c.171dupG

1 paper

NM_000433.4

p.E57delFs

c.171delC

4 papers

NM_000433.4

p.M46R

c.137T>G

1 paper

NM_000433.4

p.G44C

c.130G>T

5 papers

NM_000433.4

p.G44R

c.130G>C

1 paper

NM_000433.4

p.N42S

c.125A>G

1 paper

NM_000433.4

p.I39_C40insG

c.115_119ins3

9 papers

NM_000433.4

p.R38Q

c.113G>A